Genomics

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Early genomic profiling improves cancer treatment outcomes

New real-world data from Providence, Illumina, and Microsoft Research reveals that Comprehensive Genomic Profiling (CGP), when done early in a cancer patient's diagnosis, leads to better personalized treatment and patient outcomes.

12 Nov 2024

Metabolic enzymes take on unexpected roles in cell division and DNA repair

Researchers at the Centre for Genomic Regulation (CRG) reveal that metabolic enzymes known for their roles in energy production and nucleotide synthesis are taking on unexpected "second jobs" within the nucleus, orchestrating critical functions like cell division and DNA repair.

12 Nov 2024

Next-generation metagenomic sequencing test quickly detects any kind of pathogen

Next-generation metagenomic sequencing test developed at UCSF proves its effectiveness in quickly diagnosing almost any kind of pathogen.

12 Nov 2024

New study highlights the importance of BMI in disease pathogenesis

New study from deCODE genetics/Amgen highlights the importance of BMI in pathogenesis of disease, suggesting that reducing BMI alone could lower the risk of several diseases.

12 Nov 2024

Study shows how a single defective BRCA1 gene accelerates cancer development

People inherit two copies of each gene -; one from each parent -; an evolutionary fail-safe to ensure survival even when one of them doesn't function.

11 Nov 2024

New genetic model offers insights into breast cancer metastasis

A Michigan State University researcher's new model for studying breast cancer could help scientists better understand why and where cancer metastasizes.

11 Nov 2024

Genetic diagnosis solves medical mystery for 30 undiagnosed patients

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.

8 Nov 2024

Exploring the protective effects of HSD17B13 in hepatic steatosis

Chronic liver disease (CLD) is a growing global health challenge, accounting for millions of deaths each year. Its major contributors include metabolic dysfunction-associated steatohepatitis (MASH), alcoholic liver disease (ALD), and hepatitis C virus infection.

8 Nov 2024

New insights into the genetic legacy of Denisovans

Scientists believe individuals of the most recently discovered "hominin" group (the Denisovans) that interbred with modern day humans passed on some of their genes via multiple, distinct interbreeding events that helped shape early human history.

8 Nov 2024

MIT team creates efficient technique for identifying causal gene relationships

By studying changes in gene expression, researchers learn how cells function at a molecular level, which could help them understand the development of certain diseases.

8 Nov 2024

UAB team develops a combined score to predict cancer treatment success

In 1937, President Franklin Roosevelt signed the National Cancer Act, launching a nationwide effort to combat the disease.

7 Nov 2024

CRISPR technology reveals essential noncoding RNAs in the human genome

Genes contain instructions for making proteins, and a central dogma of biology is that this information flows from DNA to RNA to proteins.

7 Nov 2024

Researchers find 41 new genetic regions linked to disc herniations

Lumbar disc herniation is one of the most common structural changes in the lower back and the most common cause of radiating pain, or sciatica, in the leg.

7 Nov 2024

Gene editing with CRISPR may introduce new defects

The CRISPR tool is capable of repairing the genetic defect responsible for the immune disease chronic granulomatous disease.

6 Nov 2024

New research uncovers 16 genes that aid breast cancer survival

Scientists at the Johns Hopkins Kimmel Cancer Center have identified 16 genes that breast cancer cells use to survive in the bloodstream after they've escaped the low-oxygen regions of a tumor.

5 Nov 2024

Machine learning identifies key genes linking rheumatoid arthritis and osteoporosis

Rheumatoid arthritis is a common disease affecting an estimated 17 million people worldwide. The disease is caused by immune cells attacking the joints and can result in pain, swelling, and damage to the cartilage and bone.

5 Nov 2024

Multi-omics-based classification of gastrointestinal stromal tumors lays groundwork for precision treatment

A recent study offering a comprehensive view of the genome and transcriptome of gastrointestinal stromal tumors (GISTs) has introduced a new, multi-omics-based molecular classification of these tumors.

5 Nov 2024

Werner syndrome gene plays key role in maintaining cellular organization and DNA stability

A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science), Volume 16, Issue 20 on October 17, 2024, entitled, "Werner syndrome RECQ helicase participates in and directs maintenance of the protein complexes of constitutive heterochromatin in proliferating human cells."

5 Nov 2024

Scientists develop synthetic genes that can build intracellular structures

Researchers from the UCLA Samueli School of Engineering and the University of Rome Tor Vergata in Italy have developed synthetic genes that function like the genes in living cells.

4 Nov 2024

Exercise temporarily improves muscle insulin resistance linked to genetic risk for type 2 diabetes

The study uncovers how acute exercise alleviates insulin resistance in TBC1D4 variant carriers, underscoring the need for personalized diabetes interventions.

4 Nov 2024